Galactosaemia in black South African children

Objective: To evaluate the clinical and biochemical features of all black c hildren confirmed to have galactosaemia from the KwaZulu Natal Province of South Africa. Design: Prospective laboratory study. Subjects: These included all black ch ildren with the presenting clinical features suggestive of the diagnosis of galactosaemia. Setting: Department of Chemical Pathology, King Edward VIII Hospital, Durba n, South Africa. Method: In each case, urine was screened for the presence of a reducing sub stance using urinary dipstick followed by thin layer chromatography to esta blish the presence of galactosaemia. The diagnosis of galacotosaemia was th en confirmed by analysis of galactose-l phosphate uridyl transferase (GALT) activity in the erythrocytes using the established Beutler enzyme assay pr ocedure. Age and sex-matched samples were used as controls for GALT activit y. The presenting clinical features of each patient on admission were also recorded. Interventions: Patients confirmed to have galactosaemia were immediately pl aced on a galactose free diet. Results: The age distribution of affected individuals varied from six weeks to 27 months with 60% of the children being males. The most common present ing clinical features were jaundice in 77% of the patients, failure to thri ve 62%, and Cataracts 54%, Four patients had complete absence of GALT activ ity. Two infants who displayed acute toxicity symptoms and positive urine g alactose, exhibited normal GALT activity. Conclusion: GALT deficiency is the most common form of galactosaemia in bla ck children in the KwaZulu Natal region. Cases of galactokinase or epimeras e enzyme deficiency appear to be present. Further investigation is required to establish the occurrence and prevalence of the latter in affected indiv iduals in this region.